Pendred syndrome


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Pen·dred syn·drome (PDS),

(pen'drĕd), [MIM*274600]
characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted people are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.
Farlex Partner Medical Dictionary © Farlex 2012

Pendred syndrome

An autosomal recessive MIM 274600 condition associated with developmental defects of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement; it is the most common syndromic form of deafness.

Diagnosis
The gold-standard (perchlorate discharge) test is nonspecific, and its sensitivity is unknown.

Pathogenesis
It is caused by mutation in the SLC26A4/PDS.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Pendred syndrome

Endocrinology Hereditary association of congenital deafness and goiter due to a defect in thyroid hormone production. See Goiter. Cf Hypothyroidism.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Pen·dred syn·drome

(pen'drĕd sin'drōm)
Characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; those afflicted are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Pendred,

Vaughan, English surgeon, 1869-1946.
Pendred syndrome - a type of familial goiter.
Medical Eponyms © Farlex 2012
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References in periodicals archive ?
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Two frequent missense mutations in Pendred syndrome. Hum.
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and non-syndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet 36:475-477.
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
Molecular analysis of the PDS gene in Pendred syndrome. Hem Mol G enet 7:1105-1112.
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 36:595-598.
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine erganification.
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
Genetic factors that might lead to different responses in individuals exposed to perchlorate

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